ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.503G>A (p.Arg168Gln)

gnomAD frequency: 0.00003  dbSNP: rs772017103
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001943737 SCV002192495 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-07-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003120753 SCV003801093 uncertain significance not specified 2023-01-19 criteria provided, single submitter clinical testing Variant summary: SETX c.503G>A (p.Arg168Gln) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.6e-05 in 251034 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.503G>A has been reported in the literature in an individual affected with sporadic Amyotrophic Lateral Sclerosis (Cady_2015). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One submitter has provided a clinical-significance assessment for this variant to ClinVar after 2014, and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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